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Familial episodic limb pain in kindreds with novel Nav1.9 mutations.
Kabata R, Okuda H, Noguchi A, Kondo D, Fujiwara M, Hata K, Kato Y, Ishikawa K, Tanaka M, Sekine Y, Hishikawa N, Mizukami T, Ito J, Akasaka M, Sakurai K, Yoshida T, Minoura H, Hayashi T, Inoshita K, Matsuyama M, Kinjo N, Cao Y, Inoue S, Kobayashi H, Harada KH, Youssefian S, Takahashi T, Koizumi A. Kabata R, et al. Among authors: minoura h. PLoS One. 2018 Dec 17;13(12):e0208516. doi: 10.1371/journal.pone.0208516. eCollection 2018. PLoS One. 2018. PMID: 30557356 Free PMC article.
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Hanafusa H, Hidaka Y, Yamaguchi T, Shimojo H, Tsukahara T, Murase T, Matsuoka D, Chiba N, Shimada S, Morokawa H, Omori N, Minoura H, Nagano C, Takano K, Nakamura K, Wakui K, Fukushima Y, Uehara T, Nakazawa Y, Iijima K, Nozu K, Kosho T. Hanafusa H, et al. Among authors: minoura h. Am J Med Genet A. 2021 Jul;185(7):2175-2179. doi: 10.1002/ajmg.a.62216. Epub 2021 Apr 21. Am J Med Genet A. 2021. PMID: 33884742
Refractory status epilepticus with fever due to mumps vaccine-induced encephalitis caused secondary encephalopathy mimicking acute encephalopathy with biphasic seizures and late reduced diffusion.
Saito M, Murai T, Motobayashi M, Ono S, Nishizawa K, Minoura H, Omori N, Kitamura M, Minami K, Inaba Y. Saito M, et al. Among authors: minoura h. Brain Dev. 2022 Nov;44(10):737-742. doi: 10.1016/j.braindev.2022.08.003. Epub 2022 Aug 25. Brain Dev. 2022. PMID: 36030148
53 results